Using the external resource of PubMed (https://www.ncbi.nlm.nih.gov/pubmed/), find an article that identifies a clinical disorder that represents a fundamental disturbance of the structural integrity (anatomy) of bone tissue or the skeletal system. Introduce the clinical disorder, describe the impact on community health, and demonstrate your understanding of the material presented in Chapters 6-9. Correctly define and use at least 4 anatomic terms related to the structural organization of bone tissue or skeletal system of humans as related to the clinical scenario you introduce to your readers.
Your Discussion must be at least 250 words in length, detailing your thoughts and position using 2 references from the readings for support. Also be sure to pose 1-2 well thought out questions from which your colleagues can formulate a response or generate further discussion. Be sure to cite any references using APA format.
INTRODUCTION
Osteogenesis imperfecta is a clinical disorder that causes skeletal abnormalities causing bone fragility and deformity (Forlino & Marini, 2016). I chose osteogenesis imperfecta for this discussion assignment because I thought this disease best explained how the skeleton supports our lives. I will explain the detail of Osteogenesis imperfecta according to PubMed research and introduce four anatomic terms related to this disease in this post.
Osteogenesis imperfecta is caused by genetic alterations in collagen, which is part of the protein that forms bones, and the severity of the disease is thought to be determined by the degree of abnormality in this collagen. It is caused by "dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure" (Marini et al., 2017, para.1). Osteogenesis imperfect patients experience defects in proteins with very different functions, ranging from structural to enzymatic and from intracellular transport to chaperones, and affect patients and their families throughout their lives (Forlino & Marini, 2016).
Those patients face frequent and multiple fractures, so bone deformities and short stature are the main symptoms during childhood (OpenStax, 2018). In adults, it causes bone pain, respiratory dysfunction due to spinal deformation, and heart failure due to heart valve abnormalities (Marini et al., 2017). The incidence of osteogenesis imperfecta is said to be about 1 in 20,000 to 30,000 people, and it is known that there are about 6,000 patients in Japan. Osteogenesis imperfecta patients experience limitations in normal breathing and daily activities, which is a massive burden for the family caring for them.
Four anatomic terms related to osteogenesis imperfecta
Collagen
As we learn in chapter 9 of the textbook, collagen is such an essential structural protein in many parts of the body. However, osteogenesis imperfecta patients have problems with their underlying collagen, which prevents them from using the vital functions of the skeletal system, such as supporting the body, facilitating movement, and protecting internal organs (OpenStax, 2018).
Sternum
The sternum is the elongated bony structure that anchors the anterior thoracic cage, and it consists of the 12 pairs of ribs with their costal cartilages and the sternum (OpenStax, 2018, chap.7). When patients with Osteogenesis imperfecta experience a ribcage fracture due to hypoplasia or an external impact, the lungs may collapse, and the patient may die without being able to breathe normally.
Vertebral column
The spinal column runs through the center of the human body and is an essential skeleton that allows us to perform various actions such as standing, sitting, and walking. "It consists of a sequence of vertebrae (singular = vertebra), each of which is separated and united by an intervertebral disc" (OpenStax, 2018, chap.7). Patients with osteogenesis imperfecta frequently experience fractures and deformities in the spine that interfere with normal breathing and make daily activities impossible. This is a huge burden not only for the patient but also for the family caring for them.
Bone Remodeling
The healing of bone fractures progresses in three stages, the inflammatory stage, the repair stage, and the remodeling stage. Bleeding from the bone marrow at the fracture site forms a blood clot called a hematoma that contains various growth factors, and along with the inflammation in the tissue surrounding the fracture subsides, various cells proliferate and proceed toward bone union. In addition, the periosteal cells in the periosteum around the fracture change into osteoblasts, cells that create new bone, and bone formation and bone repair begin (OpenStax, 2018). Patients with osteogenesis imperfecta also experience this, but because there is also an abnormality in collagen, strong bone cannot be generated, and fractures and healing occur repeatedly.
Discussion (Question)
Have you ever heard about Osteogenesis imperfecta other than this week's reading??
Do you know of any other disorders caused by bone dysplasia?
CONCLUSION
As we have seen, the skeletal system is fundamental to our survival and activity. Due to genetic problems, people with osteogenesis imperfecta cannot develop a regular skeletal system and experience many fractures and bone deformities, resulting in limitations in normal breathing and daily activities.
Thank you for reading, guys!!! Have a nice day:) (673 words)
References
Forlino, A., & Marini, J. C. (2016). Osteogenesis imperfecta. Lancet (London, England), 387(10028), 1657–1671. Retrieved from https://doi.org/10.1016/S0140-6736(15)00728-X
Marini, J. C., Forlino, A., Bächinger, H. P., Bishop, N. J., Byers, P. H., Paepe, A., Fassier, F., Fratzl-Zelman, N., Kozloff, K. M., Krakow, D., Montpetit, K., & Semler, O. (2017). Osteogenesis imperfecta. Nature reviews. Disease primers, 3, 17052. Retrieved from https://doi.org/10.1038/nrdp.2017.52
OpenStax. (2018). Anatomy & physiology. Houston, TX: Rice University. Retrieved from https://cnx.org/contents/FPtK1zmh@12.6:fEI3C8Ot@16/Preface.
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